Review evaluates utility of GIRA high-risk genomic criteria across 9 adult conditions in 48279 patients
Genomic risk scores identify 30 percent of adults as high-risk for nine common conditions
This retrospective evaluation reviews the utility of GIRA high-risk criteria, which include monogenic and polygenic genomic components, acro…
A new analysis of nearly 48,000 adults found that genomic risk scores labeled 30.4 percent of people as high-risk for nine common health iss…
Review of ASO treatment for IGHMBP2-related spinal muscular atrophy and Charcot-Marie-Tooth
One treatment may fix rare nerve disease in kids
This narrative review synthesizes evidence from a case series on antisense oligonucleotide treatment for IGHMBP2-related disease. The main f…
A rare genetic nerve disease in infants may one day be treated with one targeted therapy that fixes how genes are read in nerve cells.
Review of scRNA-seq applications in non-alcoholic fatty liver disease and hepatocellular carcinoma research
New sequencing tools map liver disease across many species
This narrative review examines the use of single-cell and single-nucleus RNA sequencing in models of non-alcoholic fatty liver disease, fibr…
Scientists used advanced sequencing to study liver disease in humans and animals. This review maps how the disease changes at a cellular lev…
Genome-wide analysis of 1.7 million individuals reveals shared genetic liability across cardiovascular diseases in European and East Asian biobanks.
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This genome-wide and exome-wide association analysis review synthesizes data from ~1.7 million individuals in European and East Asian bioban…
Shared DNA Explains Why Heart Conditions Often Cluster
Descriptive analysis of extracellular particles in human biofluids from healthy participants
Hidden particles in blood may protect the body
This descriptive study examined circulating particles in biofluids from ten healthy participants. It found double-membrane extracellular par…
Scientists spotted whole mitochondria floating in blood and saliva, suggesting they may signal damage or help repair tissue instead of causi…
GROMTools offers near-identical GReX accuracy with 100-fold CPU savings versus PrediXcan and PLINK2
New Tool Speeds Up Gene Activity Predictions 100-Fold
This software tool description benchmarks GROMTools against PrediXcan and PLINK2 using UK Biobank data. The authors report that GROMTools ac…
Scientists have built a faster, lighter tool that can predict how genes are turned on in people’s tissues at a scale never possible before, …
Trans-predicted protein levels improve disease heritability explanation and gene prioritization
New Method Finds Hidden Causes of Disease
Researchers utilized a proteome-wide association study to examine how cis- and trans-predicted protein levels relate to various diseases and…
Scientists can now spot disease-causing proteins that old methods missed — a shift that could lead to better treatments for heart disease, d…
GenMetS polygenic score association with cardiometabolic risk in Asian populations
New Genetic Score Predicts Heart Risk Decades Earlier in Asian Populations
This cohort study of 670,952 individuals investigated the association between the GenMetS polygenic score and cardiometabolic risk across th…
A new genetic score developed in young Asian women accurately predicts heart and diabetes risk from childhood through adulthood, filling a m…
LANTERN method identifies ancestry-specific rare-variant associations in African American participants
New Tool Finds Rare Genetic Clues Hidden In Mixed Heritage DNA
This cohort study used the LANTERN method in African American participants from the Jackson Heart Study to examine rare-variant aggregate as…
A new computer method finds rare genetic clues in mixed-heritage DNA that older tests miss, helping doctors understand blood health better.
Optical genome mapping identifies mosaic structural variants in surgically resected epilepsy brain tissue
New mapping tool finds hidden genetic changes in epilepsy
This case series evaluates the utility of optical genome mapping (OGM) in detecting somatic structural variants in patients with epilepsy an…
A new way to map the genome is uncovering complex genetic mutations in brain tissue that standard testing often misses.
Review of genetic risk variants in idiopathic pulmonary fibrosis among non-European individuals shows limited transferability.
One Gene Variant Drives Lung Scarring Across All Ancestries
This evaluation is a review focusing on idiopathic pulmonary fibrosis in clinically curated non-European individuals with limited sample siz…
A common gene switch that boosts lung mucus is the top risk factor for pulmonary fibrosis across all ancestries, guiding future testing.
Genetic study of autism in African Americans shows limited transferability of European-derived polygenic scores
Autism genes differ by ancestry—new clues in Black families
This cohort study of 38,483 autistic individuals compared genetic findings between African and European ancestries. Common variant effects w…
Black children with autism carry different genetic clues than white children, a landmark study shows—meaning better answers and fairer care …